ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827332390
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003059380
ClinVar Variation:
2120438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Ser15Gly
CA412331425
NM_001330209.2:c.43A>G